{"id":"https://openalex.org/W2909338461","doi":"https://doi.org/10.1097/mcd.0000000000000255","title":"St\u00fcve\u2013Wiedemann syndrome: recurrent neonatal infections caused by impairment of JAK/STAT 3 pathway","display_name":"St\u00fcve\u2013Wiedemann syndrome: recurrent neonatal infections caused by impairment of JAK/STAT 3 pathway","publication_year":2019,"publication_date":"2019-01-08","ids":{"openalex":"https://openalex.org/W2909338461","doi":"https://doi.org/10.1097/mcd.0000000000000255","mag":"2909338461","pmid":"https://pubmed.ncbi.nlm.nih.gov/30614825"},"language":"en","primary_location":{"id":"doi:10.1097/mcd.0000000000000255","doi":"https://doi.org/10.1097/mcd.0000000000000255","is_oa":false,"landing_page_url":"https://doi.org/10.1097/mcd.0000000000000255","pdf_url":null,"source":{"id":"https://openalex.org/S29023056","display_name":"Clinical Dysmorphology","issn_l":"0962-8827","issn":["0962-8827","1473-5717"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core","dongbi-c","doyens","jufo-1","medline","norway-1","poland-40","russia-white-list-4","vabb-shw"],"host_organization":"https://openalex.org/P4310315671","host_organization_name":"Lippincott Williams & Wilkins","host_organization_lineage":["https://openalex.org/P4310315671","https://openalex.org/P4310318547"],"host_organization_lineage_names":["Lippincott Williams & Wilkins","Wolters Kluwer"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Clinical Dysmorphology","raw_type":"journal-article"},"volume":null,"type":"article","is_traditional":true,"indexed_in":["crossref","pubmed"],"open_access":{"is_oa":true,"oa_status":"green","oa_url":"https://pure.amsterdamumc.nl/en/publications/26719590-3d30-4196-8018-3b9eb8186c1b","any_repository_has_fulltext":true},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5031899678","display_name":"Karolien Van De Maele","orcid":"https://orcid.org/0000-0002-0706-0343","observed_orcids":["https://orcid.org/0000-0002-0706-0343"]},"institutions":[{"id":"https://openalex.org/I4210126764","display_name":"Universitair Ziekenhuis Brussel","ror":"https://ror.org/038f7y939","country_code":"BE","type":"healthcare","lineage":["https://openalex.org/I4210126764"]}],"countries":["BE"],"is_corresponding":true,"raw_author_name":"Karolien Van De Maele","raw_affiliation_strings":["Department of Pediatrics (KidZ Health Castle), University Hospital Brussels, Jette, Belgium"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Pediatrics (KidZ Health Castle), University Hospital Brussels, Jette, Belgium","institution_ids":["https://openalex.org/I4210126764"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5063593304","display_name":"Charlotte A. Smulders","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I3018483916","display_name":"University Medical Center Utrecht","ror":"https://ror.org/0575yy874","country_code":"NL","type":"healthcare","lineage":["https://openalex.org/I3018483916"]}],"countries":["NL"],"is_corresponding":false,"raw_author_name":"Charlotte Smulders","raw_affiliation_strings":["Department of Paediatrics, University Medical Center Utrecht, Utrecht"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Paediatrics, University Medical Center Utrecht, Utrecht","institution_ids":["https://openalex.org/I3018483916"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5074869342","display_name":"Ginette M. Ecury\u2010Goossen","orcid":"https://orcid.org/0000-0001-6249-6986","observed_orcids":["https://orcid.org/0000-0001-6249-6986"]},"institutions":[{"id":"https://openalex.org/I4210086638","display_name":"St. Elisabeth Hospital","ror":"https://ror.org/003mpgw14","country_code":"CW","type":"healthcare","lineage":["https://openalex.org/I4210086638"]},{"id":"https://openalex.org/I4405263082","display_name":"Cura\u00e7ao Medical Center","ror":"https://ror.org/02acpdc95","country_code":"CW","type":"healthcare","lineage":["https://openalex.org/I4405263082"]}],"countries":["CW"],"is_corresponding":false,"raw_author_name":"Ginette Ecury-Goossen","raw_affiliation_strings":["Department of Pediatrics and Neonatology, Sint Elisabeth Hospitaal Cura\u00e7ao, Otrobanda, Willemstad, Cura\u00e7ao"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Pediatrics and Neonatology, Sint Elisabeth Hospitaal Cura\u00e7ao, Otrobanda, Willemstad, Cura\u00e7ao","institution_ids":["https://openalex.org/I4210086638","https://openalex.org/I4405263082"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5035130825","display_name":"I. J. M. Rosina\u2010Angelista","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I4210086638","display_name":"St. Elisabeth Hospital","ror":"https://ror.org/003mpgw14","country_code":"CW","type":"healthcare","lineage":["https://openalex.org/I4210086638"]},{"id":"https://openalex.org/I4405263082","display_name":"Cura\u00e7ao Medical Center","ror":"https://ror.org/02acpdc95","country_code":"CW","type":"healthcare","lineage":["https://openalex.org/I4405263082"]}],"countries":["CW"],"is_corresponding":false,"raw_author_name":"Irsa Rosina-Angelista","raw_affiliation_strings":["Department of Pediatrics and Neonatology, Sint Elisabeth Hospitaal Cura\u00e7ao, Otrobanda, Willemstad, Cura\u00e7ao"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Pediatrics and Neonatology, Sint Elisabeth Hospitaal Cura\u00e7ao, Otrobanda, Willemstad, Cura\u00e7ao","institution_ids":["https://openalex.org/I4210086638","https://openalex.org/I4405263082"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5072341071","display_name":"Egbert J. W. Redeker","orcid":"https://orcid.org/0000-0001-5787-4671","observed_orcids":["https://orcid.org/0000-0001-5787-4671"]},"institutions":[{"id":"https://openalex.org/I2802928900","display_name":"Amsterdam UMC Location University of Amsterdam","ror":"https://ror.org/03t4gr691","country_code":"NL","type":"healthcare","lineage":["https://openalex.org/I2802928900","https://openalex.org/I4210151833"]}],"countries":["NL"],"is_corresponding":false,"raw_author_name":"Egbert Redeker","raw_affiliation_strings":["Department of Clinical Genetics, Academic Medical Center Amsterdam"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Clinical Genetics, Academic Medical Center Amsterdam","institution_ids":["https://openalex.org/I2802928900"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5033303231","display_name":"Mieke M. van Haelst","orcid":"https://orcid.org/0000-0001-7126-2030","observed_orcids":["https://orcid.org/0000-0001-7126-2030","https://orcid.org/0000-0002-7519-0246"]},"institutions":[{"id":"https://openalex.org/I2802928900","display_name":"Amsterdam UMC Location University of Amsterdam","ror":"https://ror.org/03t4gr691","country_code":"NL","type":"healthcare","lineage":["https://openalex.org/I2802928900","https://openalex.org/I4210151833"]},{"id":"https://openalex.org/I911458345","display_name":"Amsterdam UMC Location Vrije Universiteit Amsterdam","ror":"https://ror.org/00q6h8f30","country_code":"NL","type":"healthcare","lineage":["https://openalex.org/I4210151833","https://openalex.org/I911458345"]}],"countries":["NL"],"is_corresponding":false,"raw_author_name":"Mieke van Haelst","raw_affiliation_strings":["Department of Clinical Genetics, Academic Medical Center Amsterdam","Department of Clinical Genetics, VU University Medical Center Amsterdam, Amsterdam, The Netherlands"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Clinical Genetics, Academic Medical Center Amsterdam","institution_ids":["https://openalex.org/I2802928900"]},{"raw_affiliation_string":"Department of Clinical Genetics, VU University Medical Center Amsterdam, Amsterdam, The Netherlands","institution_ids":["https://openalex.org/I911458345"]}]}],"institutions":[],"countries_distinct_count":3,"institutions_distinct_count":6,"corresponding_author_ids":["https://openalex.org/A5031899678"],"corresponding_institution_ids":["https://openalex.org/I4210126764"],"apc_list":null,"apc_paid":null,"fwci":0.4846,"has_fulltext":true,"cited_by_count":10,"citation_normalized_percentile":{"value":0.5632031,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":88,"max":97},"biblio":{"volume":"28","issue":"2","first_page":"57","last_page":"62"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T11725","display_name":"Immunodeficiency and Autoimmune Disorders","score":0.9970999956130981,"subfield":{"id":"https://openalex.org/subfields/2403","display_name":"Immunology"},"field":{"id":"https://openalex.org/fields/24","display_name":"Immunology and Microbiology"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}},"topics":[{"id":"https://openalex.org/T11725","display_name":"Immunodeficiency and Autoimmune Disorders","score":0.9970999956130981,"subfield":{"id":"https://openalex.org/subfields/2403","display_name":"Immunology"},"field":{"id":"https://openalex.org/fields/24","display_name":"Immunology and Microbiology"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}},{"id":"https://openalex.org/T11503","display_name":"Cytokine Signaling Pathways and Interactions","score":0.0024999999441206455,"subfield":{"id":"https://openalex.org/subfields/2403","display_name":"Immunology"},"field":{"id":"https://openalex.org/fields/24","display_name":"Immunology and Microbiology"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}},{"id":"https://openalex.org/T11642","display_name":"Genomics and Rare Diseases","score":0.00019999999494757503,"subfield":{"id":"https://openalex.org/subfields/1311","display_name":"Genetics"},"field":{"id":"https://openalex.org/fields/13","display_name":"Biochemistry, Genetics and Molecular Biology"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}}],"keywords":[{"id":"https://openalex.org/keywords/stuve-wiedemann-syndrome","display_name":"St\u00fcve-Wiedemann syndrome","score":0.9950000047683716},{"id":"https://openalex.org/keywords/lifr","display_name":"LIFR","score":0.8180000185966492},{"id":"https://openalex.org/keywords/jak-stat3-signaling-pathway","display_name":"JAK/STAT3 signaling","score":0.7789999842643738},{"id":"https://openalex.org/keywords/autosomal-recessive-disorder","display_name":"autosomal recessive disorder","score":0.7860000133514404},{"id":"https://openalex.org/keywords/skeletal-dysplasia","display_name":"skeletal dysplasia","score":0.9549999833106995},{"id":"https://openalex.org/keywords/feeding-difficulties","display_name":"feeding difficulties","score":0.7459999918937683},{"id":"https://openalex.org/keywords/autonomic-dysfunction","display_name":"autonomic dysfunction","score":0.9710000157356262},{"id":"https://openalex.org/keywords/t-helper-cells","display_name":"T helper cells","score":0.7670000195503235},{"id":"https://openalex.org/keywords/loss-of-function-variants","display_name":"loss-of-function mutations","score":0.9070000052452087}],"concepts":[{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.8628515005111694},{"id":"https://openalex.org/C2776917539","wikidata":"https://www.wikidata.org/wiki/Q1497481","display_name":"Failure to thrive","level":2,"score":0.5815363526344299},{"id":"https://openalex.org/C2778277574","wikidata":"https://www.wikidata.org/wiki/Q665327","display_name":"stat","level":4,"score":0.46131396293640137},{"id":"https://openalex.org/C2775894508","wikidata":"https://www.wikidata.org/wiki/Q1128996","display_name":"Dysplasia","level":2,"score":0.4179529547691345},{"id":"https://openalex.org/C203014093","wikidata":"https://www.wikidata.org/wiki/Q101929","display_name":"Immunology","level":1,"score":0.3587380051612854},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.3571341037750244},{"id":"https://openalex.org/C126322002","wikidata":"https://www.wikidata.org/wiki/Q11180","display_name":"Internal medicine","level":1,"score":0.3061710000038147},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.2634487748146057},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.07614061236381531},{"id":"https://openalex.org/C2778923194","wikidata":"https://www.wikidata.org/wiki/Q14912019","display_name":"STAT3","level":3,"score":0.0}],"mesh":[{"descriptor_ui":"D000015","descriptor_name":"Abnormalities, Multiple","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D000328","descriptor_name":"Adult","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005097","descriptor_name":"Exostoses, Multiple Hereditary","qualifier_ui":"Q000503","qualifier_name":"physiopathology","is_major_topic":true},{"descriptor_ui":"D005190","descriptor_name":"Family","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005260","descriptor_name":"Female","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D006801","descriptor_name":"Humans","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D007231","descriptor_name":"Infant, Newborn","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D008297","descriptor_name":"Male","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D009154","descriptor_name":"Mutation","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D010009","descriptor_name":"Osteochondrodysplasias","qualifier_ui":"Q000503","qualifier_name":"physiopathology","is_major_topic":true},{"descriptor_ui":"D010375","descriptor_name":"Pedigree","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D013577","descriptor_name":"Syndrome","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D035781","descriptor_name":"Siblings","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D050796","descriptor_name":"STAT3 Transcription Factor","qualifier_ui":"Q000502","qualifier_name":"physiology","is_major_topic":false},{"descriptor_ui":"D053612","descriptor_name":"Janus Kinases","qualifier_ui":"Q000502","qualifier_name":"physiology","is_major_topic":false},{"descriptor_ui":"D053616","descriptor_name":"Janus Kinase 3","qualifier_ui":"Q000502","qualifier_name":"physiology","is_major_topic":false},{"descriptor_ui":"D053680","descriptor_name":"Leukemia Inhibitory Factor Receptor alpha Subunit","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D053680","descriptor_name":"Leukemia Inhibitory Factor Receptor alpha Subunit","qualifier_ui":"Q000502","qualifier_name":"physiology","is_major_topic":false}],"locations_count":7,"locations":[{"id":"doi:10.1097/mcd.0000000000000255","doi":"https://doi.org/10.1097/mcd.0000000000000255","is_oa":false,"landing_page_url":"https://doi.org/10.1097/mcd.0000000000000255","pdf_url":null,"source":{"id":"https://openalex.org/S29023056","display_name":"Clinical Dysmorphology","issn_l":"0962-8827","issn":["0962-8827","1473-5717"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core","dongbi-c","doyens","jufo-1","medline","norway-1","poland-40","russia-white-list-4","vabb-shw"],"host_organization":"https://openalex.org/P4310315671","host_organization_name":"Lippincott Williams & Wilkins","host_organization_lineage":["https://openalex.org/P4310315671","https://openalex.org/P4310318547"],"host_organization_lineage_names":["Lippincott Williams & Wilkins","Wolters Kluwer"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Clinical Dysmorphology","raw_type":"journal-article"},{"id":"pmid:30614825","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/30614825","pdf_url":null,"source":{"id":"https://openalex.org/S4306525036","display_name":"PubMed","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I1299303238","host_organization_name":"National Institutes of Health","host_organization_lineage":["https://openalex.org/I1299303238"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Clinical dysmorphology","raw_type":"Case Reports"},{"id":"pmh:amcpub:oai:pure.amc.nl:publications/7d6a88c8-0ce2-49df-ba69-c46c883b341e","doi":null,"is_oa":false,"landing_page_url":"https://pure.amc.nl/en/publications/stuvewiedemann-syndrome-recurrent-neonatal-infections-caused-by-impairment-of-jakstat-3-pathway(7d6a88c8-0ce2-49df-ba69-c46c883b341e).html","pdf_url":null,"source":{"id":"https://openalex.org/S4306401843","display_name":"Data Archiving and Networked Services (DANS)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I1322597698","host_organization_name":"Royal Netherlands Academy of Arts and Sciences","host_organization_lineage":["https://openalex.org/I1322597698"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"Clinical dysmorphology, 28(2), 57 - 62. Lippincott Williams and Wilkins","raw_type":"info:eu-repo/semantics/article"},{"id":"pmh:oai:lirias2repo.kuleuven.be:123456789/661339","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/30614825","pdf_url":null,"source":{"id":"https://openalex.org/S7407055369","display_name":"Lirias","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":null,"host_organization_name":null,"host_organization_lineage":[],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"Clinical Dysmorphology, vol. 28 (2), (57-62)","raw_type":"info:eu-repo/semantics/article"},{"id":"pmh:oai:pure.amsterdamumc.nl:openaire/26719590-3d30-4196-8018-3b9eb8186c1b","doi":null,"is_oa":true,"landing_page_url":"https://pure.amsterdamumc.nl/en/publications/26719590-3d30-4196-8018-3b9eb8186c1b","pdf_url":null,"source":{"id":"https://openalex.org/S7407055222","display_name":"Pure Amsterdam UMC","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":null,"host_organization_name":null,"host_organization_lineage":[],"host_organization_lineage_names":[],"type":"repository"},"license":"other-oa","license_id":"https://openalex.org/licenses/other-oa","version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"van de Maele, K, Smulders, C, Ecury-Goossen, G, Rosina-Angelista, I, Redeker, E & van Haelst, M 2019, 'St\u00fcve-Wiedemann syndrome: recurrent neonatal infections caused by impairment of JAK/STAT 3 pathway : Recurrent neonatal infections caused by impairment of JAK/STAT 3 pathway', Clinical dysmorphology, vol. 28, no. 2, pp. 57-62. https://doi.org/10.1097/MCD.0000000000000255","raw_type":"info:eu-repo/semantics/article"},{"id":"pmh:oai:vubissmart:VUBISSMART:2000:118364","doi":null,"is_oa":false,"landing_page_url":"https://biblio.vub.ac.be/vubir/(15982fa5-3122-47ce-b0aa-c860657456c5).html","pdf_url":null,"source":{"id":"https://openalex.org/S4306402573","display_name":"VUBIR (Vrije Universiteit Brussel)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I13469542","host_organization_name":"Vrije Universiteit Brussel","host_organization_lineage":["https://openalex.org/I13469542"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":null,"raw_type":"article"},{"id":"pmh:vumc:oai:pure.atira.dk:publications/63b882dc-7edf-4df5-836a-7463c9bef827","doi":null,"is_oa":false,"landing_page_url":"https://research.vumc.nl/en/publications/63b882dc-7edf-4df5-836a-7463c9bef827","pdf_url":null,"source":{"id":"https://openalex.org/S4306401843","display_name":"Data Archiving and Networked Services (DANS)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I1322597698","host_organization_name":"Royal Netherlands Academy of Arts and Sciences","host_organization_lineage":["https://openalex.org/I1322597698"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"Clinical Dysmorphology, 28(2), 57 - 62. Lippincott Williams and Wilkins","raw_type":"info:eu-repo/semantics/article"}],"best_oa_location":{"id":"pmh:oai:pure.amsterdamumc.nl:openaire/26719590-3d30-4196-8018-3b9eb8186c1b","doi":null,"is_oa":true,"landing_page_url":"https://pure.amsterdamumc.nl/en/publications/26719590-3d30-4196-8018-3b9eb8186c1b","pdf_url":null,"source":{"id":"https://openalex.org/S7407055222","display_name":"Pure Amsterdam UMC","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":null,"host_organization_name":null,"host_organization_lineage":[],"host_organization_lineage_names":[],"type":"repository"},"license":"other-oa","license_id":"https://openalex.org/licenses/other-oa","version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"van de Maele, K, Smulders, C, Ecury-Goossen, G, Rosina-Angelista, I, Redeker, E & van Haelst, M 2019, 'St\u00fcve-Wiedemann syndrome: recurrent neonatal infections caused by impairment of JAK/STAT 3 pathway : Recurrent neonatal infections caused by impairment of JAK/STAT 3 pathway', Clinical dysmorphology, vol. 28, no. 2, pp. 57-62. https://doi.org/10.1097/MCD.0000000000000255","raw_type":"info:eu-repo/semantics/article"},"sustainable_development_goals":[{"id":"https://metadata.un.org/sdg/3","score":0.98580002784729,"display_name":"Good health and well-being"}],"study_designs":[{"id":"https://openalex.org/study-designs/case-report","display_name":"Case Report"}],"awards":[],"funders":[],"has_content":{"pdf":false,"grobid_xml":false},"content_urls":null,"referenced_works_count":11,"referenced_works":["https://openalex.org/W1964210808","https://openalex.org/W1985580048","https://openalex.org/W2016725540","https://openalex.org/W2061014664","https://openalex.org/W2063799558","https://openalex.org/W2119282845","https://openalex.org/W2134955266","https://openalex.org/W2150282203","https://openalex.org/W2291029684","https://openalex.org/W2299185982","https://openalex.org/W2604839281"],"related_works":["https://openalex.org/W2128223608","https://openalex.org/W2286896244","https://openalex.org/W1843111160","https://openalex.org/W2299185982","https://openalex.org/W2063799558","https://openalex.org/W2134955266","https://openalex.org/W2155671058","https://openalex.org/W4402608777","https://openalex.org/W2769097825","https://openalex.org/W4380853305"],"abstract_inverted_index":{"St\u00fcve-Wiedemann":[0,31],"syndrome":[1],"(OMIM":[2],"#601559)":[3],"is":[4,44],"a":[5],"rare,":[6],"autosomal":[7],"recessive":[8],"disorder":[9],"characterized":[10],"by":[11,74],"skeletal":[12],"dysplasia,":[13],"consecutive":[14],"infections,":[15],"feeding":[16],"difficulties":[17],"and":[18],"autonomic":[19],"dysregulation.":[20],"We":[21],"present":[22],"an":[23],"Afro-Caribbean":[24],"family":[25],"with":[26,30,69],"two":[27],"siblings":[28],"diagnosed":[29],"syndrome.":[32],"The":[33],"underlying":[34],"loss-of-function":[35],"mutation":[36],"in":[37],"the":[38,51],"leukemia":[39],"inhibitory":[40],"factor":[41],"receptor":[42],"gene":[43],"thought":[45],"to":[46,67],"impair":[47],"proper":[48],"functioning":[49,59],"of":[50,60],"JAK/STAT":[52],"3":[53],"pathway.":[54],"As":[55],"this":[56,75],"affects":[57],"normal":[58],"T-helper":[61],"cells,":[62],"these":[63],"patients":[64],"are":[65],"prone":[66],"infections":[68],"uncommon":[70],"pathogens":[71],"as":[72],"illustrated":[73],"case.":[76]},"counts_by_year":[{"year":2025,"cited_by_count":2},{"year":2024,"cited_by_count":1},{"year":2023,"cited_by_count":2},{"year":2022,"cited_by_count":4},{"year":2020,"cited_by_count":1}],"updated_date":"2026-10-31T12:09:11.096373","created_date":"2019-01-25T00:00:00"}
